The Buxbaum Laboratory

Publications

Jacobson DR, Gorevic PD and Buxbaum JN: A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. Amer J Human Genet 47:127, 1990.

Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN: The Role of transthyretin Ile 122 in Late Onset Cardiac Amyloidosis, A common genetic disorder in African-Americans. New England Journal of Medicine 336:466-473, 1997.

Soares M, Buxbaum J, Sirugo G, Coelho T, Sousa A, Kastner D, Saraiva MJ: Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repear expansions. Hum Genet 104:480-485, 1999.

Teng MH, Yin J, Vidal R, Ghiso J, Tagoe C, Gallo G and Buxbaum JN: Amyloid and non-fibrillar tissue deposits in animals transgenic for wild type human transthyretin: A possible model for senile systemic amyloidosis. Laboratory Investigation 81:385-396, 2001.

Buxbaum JN. Diseases of protein conformation: what do in vitro experiments tell us about the in vivo diseases? Trends in Biochemical Sciences 28 (11):585-92, 2003.

Soares ML, Coelho T, Sousa A, Holmgren G, Saraiva MJ, Kastner DL, Buxbaum JN. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy type I in Portugal and Sweden. Eur J Hum Genet 12(3):225-37; Mar 2004.

Reixach N, Deechongkit S, Jiang X, Kelly JW, Buxbaum JN. Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture. Proc Natl Acad Sci (USA) 101(9):2817-2822, 2004.

Soares ML, Coelho T, Sousa A, Batalov S, Conceição I, Sales-Luís ML, Ritchie MD, Williams SM, Nievergelt CM, Schork NJ, Saraiva MJ, Buxbaum JN. Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single gene disease. Hum. Mol. Gen. 14(4):543-553, 2005.

Westermark P, Benson MD, Buxbaum JN, Cohen AS, Frangione B, Ikeda S, Masters CL, Merlini G, Saraiva MJ, Sipe JD; Nomenclature Committee of the International Society of Amyloidosis. Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid 12(1):1-4. Review. 2005.

Buxbaum JN. Treatment and prevention of the amyloidoses: can the lessons learned be applied to sporadic inclusion-body myositis? Neurology 66(2 Suppl 1):S110-3. Review. 2006

Reixach N, Adamski-Werner SL, Kelly JW, Koziol J, Buxbaum JN. Cell based screening of inhibitors of transthyretin aggregation. Biochem Biophys Res Commun. 348(3):889-97, 2006.

Buxbaum JN. VIth International Symposium on Familial Amyloidotic Polyneuropathy and other Transthyretin Disorders and the Vth International Workshop on Liver Transplantation in Familial Amyloidotic Polyneuropathy. Amyloid 13(2):111-3, 2006.

Maleknia SD, Reixach N, Buxbaum JN. Oxidation inhibits amyloid fibril formation of transthyretin. FEBS J. 273(23):5400-6, 2006.

Bartfai T, Waalen J, Buxbaum JN. Adipose tissue as a modulator of clinical inflammation: does obesity reduce the prevalence of rheumatoid arthritis? J Rheumatol.34(3):488-92. Review. 2007

Westermark P, Benson MD, Buxbaum JN, Cohen AS, Frangione B, Ikeda S, Masters CL, Merlini G, Saraiva MJ, Sipe JD. A primer of amyloid nomenclature. Amyloid 14(3):179-83, 2007.

Tagoe CE, Reixach N, Friske L, Mustra D, French D, Gallo G, Buxbaum JN. In vivo stabilization of mutant human transthyretin in transgenic mice. Amyloid 14(3):227-36, 2007.

Reixach N, Foss TR, Santelli E, Pascual J, Kelly JW, Buxbaum JN. Human-murine transthyretin heterotetramers are kinetically stable and non-amyloidogenic. A lesson in the generation of transgenic models of diseases involving oligomeric proteins. J Biol Chem. 283(4):2098-107, 2008.

Wiseman RL, Powers ET, Buxbaum JN, Kelly JW, Balch WE. An adaptable standard for protein export from the endoplasmic reticulum. Cell 131(4):809-21, 2007.

Buxbaum JN, Ye Z, Reixach N, Friske L, Levy C, Das P, Golde T, Masliah E, Roberts AR, Bartfai T. Transthyretin protects Alzheimer's mice from the behavioral and biochemical effects of Abeta toxicity. Proc Natl Acad Sci U S A. 105(7):2681-6, 2008.

Buxbaum JN. Animal models of human amyloidoses: are transgenic mice worth the time and trouble? FEBS Lett.583(16):2663-73, 2009.

Buxbaum JN, Reixach N. Transthyretin: the servant of many masters. Cell Mol Life Sci. 66(19):3095-101, 2009.

Buxbaum J, Alexander A, Koziol J, Tagoe C, Fox E, Kitzman D. Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies. Am Heart J. 159(5):864-70, 2010.

Buxbaum J, Anan I, Suhr O. Serum transthyretin levels in Swedish TTR V30M carriers. Amyloid. 17(2):83-5, 2010.